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PLA2G7 phospholipase A2 group VII [ Homo sapiens (human) ]

Gene ID: 7941, updated on 13-Jan-2019

Summary

Official Symbol
PLA2G7provided by HGNC
Official Full Name
phospholipase A2 group VIIprovided by HGNC
Primary source
HGNC:HGNC:9040
See related
Ensembl:ENSG00000146070 MIM:601690
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAFAD; PAFAH; LP-PLA2; LDL-PLA2
Summary
The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
Expression
Broad expression in appendix (RPKM 6.4), lymph node (RPKM 5.5) and 18 other tissues See more
Orthologs

Genomic context

See PLA2G7 in Genome Data Viewer
Location:
6p12.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (46700558..46735836, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46672053..46703430, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene solute carrier family 25 member 27 Neighboring gene uncharacterized LOC101926934 Neighboring gene tudor domain containing 6 Neighboring gene ankyrin repeat domain 66 Neighboring gene meprin A subunit alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Asthma, susceptibility to
MedGen: C1869116 OMIM: 600807 GeneReviews: Not available
Compare labs
Ige responsiveness, atopic
MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
Compare labs
Platelet-activating factor acetylhydrolase deficiency
MedGen: C3280315 OMIM: 614278 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
NHGRI GWA Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
NHGRI GWA Catalog
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of phospholipase A2, group VII (PLA2G7) in human B cells PubMed
env HIV-1 gp120 induces a specific phospholipase A2 (PLA2) activation in lymphocytes through binding to CD4, but this effect is not sufficient to accomplish virus/cell fusion PubMed
env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid oxidation IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
plasma lipoprotein particle oxidation IDA
Inferred from Direct Assay
more info
PubMed 
platelet activating factor metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of inflammatory response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of monocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase
Names
1-alkyl-2-acetylglycerophosphocholine esterase
2-acetyl-1-alkylglycerophosphocholine esterase
LDL-PLA(2)
LDL-associated phospholipase A2
PAF 2-acylhydrolase
PAF acetylhydrolase
gVIIA-PLA2
group-VIIA phospholipase A2
lipoprotein-associated phospholipase A2
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
NP_001161829.1
NP_005075.3
XP_005249465.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016204.1 RefSeqGene

    Range
    5001..36378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168357.1NP_001161829.1  platelet-activating factor acetylhydrolase precursor

    See identical proteins and their annotated locations for NP_001161829.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL591242, BC025674, BC038452
    Consensus CDS
    CCDS4917.1
    UniProtKB/Swiss-Prot
    Q13093
    Related
    ENSP00000445666.1, ENST00000537365.1
    Conserved Domains (2) summary
    COG1073
    Location:124294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II
  2. NM_005084.3NP_005075.3  platelet-activating factor acetylhydrolase precursor

    See identical proteins and their annotated locations for NP_005075.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL591242, BC025674, BP326231, U20157
    Consensus CDS
    CCDS4917.1
    UniProtKB/Swiss-Prot
    Q13093
    Related
    ENSP00000274793.7, ENST00000274793.11
    Conserved Domains (2) summary
    COG1073
    Location:124294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    46700558..46735836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249408.4XP_005249465.1  platelet-activating factor acetylhydrolase isoform X1

    See identical proteins and their annotated locations for XP_005249465.1

    UniProtKB/Swiss-Prot
    Q13093
    Conserved Domains (2) summary
    COG1073
    Location:124294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

RNA

  1. XR_001743639.2 RNA Sequence

  2. XR_002956305.1 RNA Sequence

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